Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations

Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a familial cryptic translocation segregating in three generations. A balanced translocation was present in the mother, the maternal uncle, the aunt and the grandmother. A female first cousin with dysmorphisms, hydrocephalus and mental retardation was a carrier of a partial trisomy 1p and a partial monosomy 6q. Multiple miscarriages were present in the family pedigree. Parents of the foetus had three other pregnancies: a male with a balanced translocation, and two foetuses with 1p36.3–pter monosomy and 6q25.2–qter trisomy. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal diagnosis of monosomy 4p14→pter and trisomy 11q25→qter: clinical presentations and outcomes

We present the case of a pregnant woman with low free β-HCG in maternal serum Down syndrome screening that led to prenatal diagnosis of a fetus with 46,XY,der(4)t(4;11)(p14; q25). This chromosomal aneuploidy resulted from unbalanced segregation of a paternal balanced translocation, t(4;11)(p14;q25). Prenatal ultrasound revealed intrauterine growth restriction, cleft lip and palate, a thick nuchal fold, a single umbilical artery, and pyelectasis. Array-based comparative genomic hybridization and short tandem repeat markers further located the exact breakpoint of translocation. The woman had her pregnancy terminated at 23 weeks of gestational age. The proband had general appearance of Wolf–Hirschhorn syndrome and some unique findings, including single umbilical artery, severe immunoglobulin deficiency, scalp defect, and underlying bony defect. Our case underscores the importance of fetal karyotyping when low maternal serum free β-HCG is found. It also adds information on the fetal presentations of monosomy 4p14→pter and trisomy 11q25→qter. Copyright © 2005 John Wiley & Sons, Ltd.     

Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5

We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings. Copyright © 2005 John Wiley & Sons, Ltd.     

13C在草原土壤呼吸区分中的应用

区分草原土壤呼吸的主要目的在于准确估算草原生态系统土壤碳蓄积和碳源、 汇潜力,为预测气候变化提供科学依据。论文主要论述了稳定同位素¹³C在草原土壤呼吸区分方面的应用。主要在以下几个方面进行了阐述:①碳同位素区分土壤呼吸的两种主要标记方法——脉冲标记法和持续标记法,其中脉冲标记法包括单次脉冲标记法和重复脉冲标记法,持续标记法包括FACE实验标记法和¹³C自然丰度标记法,也介绍了利用核爆产生的¹⁴C标记;②应用碳稳定同位素区分土壤呼吸的理论依据和计算方法;③土壤呼吸稳定同位素组成的取样方法和测定,包括静态箱-Keeling Plot法、 静态箱平衡状态法和动态箱连接红外分析仪法等;④指出了减小静态箱-Keeling Plot法测定土壤呼吸碳同位素值的误差需采取的措施。     

Ce-MCM-22分子筛的合成与吸附动力学研究

采用静态水热晶化法,以硅溶胶为硅源、六亚甲基亚胺(HMI)为模板剂,通过掺杂Ce合成了具有MWW层状结构的Ce-MCM-22分子筛。并利用粉末X-射线衍射(XRD)、扫描电镜(SEM)、透射电镜(TEM)等方法对其进行了表征,对其进行了吸附动力学的研究。研究表明,Ce-MCM-22吸附动力方程拟一级方程为y=-0.028 1x-0.136,R2=0.983 4。Ce-MCM-22吸附动力方程拟二级方程为y=0.465 7x+1.2005,R2=0.999 5,说明拟二级反应模型更能真实地反映分子筛吸附亚甲蓝溶液的反应机理。     

沸石和活性炭处理氨氮废水的实验研究

文章选用具有较强选择性和吸附性的13X沸石和活性炭作为吸附材料,以人工配置的含氨氮废水模拟实际废水,分别以溶液pH值、吸附时间、初始浓度和投加顺序等作为影响因素,通过实验来系统地考察所选材料对废水中氨氮的去除技术参数。结果表明:所选材料具有较好、较稳定的吸收效果,在其他条件一定的情况下,13X沸石在pH值为中性,吸附时间为40 min时对氨氮的去除率最大,达87.9%。且在相同实验条件下,先投放活性炭再投放沸石去除氨氮的效果较好,比先投放沸石然后投放活性炭的效果高出25%左右。     

铜前驱体对Cu/SSZ-13催化剂选择性催化氧化NH3性能的影响

采用浸渍法制备了一系列Cu/SSZ-13(X)催化剂,考察不同铜前驱体对催化剂选择性催化氧化氨(NH_3-SCO)性能的影响,并通过ICP、N_2吸附-脱附、XRD、XPS、EPR、UV-Vis、NH_3-TPD和H_2-TPR等手段对催化剂进行物化性质表征.活性测试结果表明,不同铜前驱体制备的Cu/SSZ-13催化剂活性顺序为Cu/SSZ-13(N) Cu/SSZ-13(AC) Cu/SSZ-13(Cl) Cu/SSZ-13(O).其中Cu/SSZ-13(N)具有最佳的低温活性,在200℃反应温度下NH_3转化率达85.5%,且N_2选择性达到80%以上.XRD、EPR和UV-Vis分析表明,CuO和孤立Cu~(2+)是Cu/SSZ-13催化剂的主要铜物种.NH_3-TPD分析表明,以硝酸铜为前驱体制备的Cu/SSZ-13(N)具有更多的酸性位点,有利于提高催化剂的NH_3吸附能力.H_2-TPR结果表明,Cu/SSZ-13(N)的氧化还原性最强,具有最优异的NH_3活化能力,从而使催化剂呈现最好的低温NH_3-SCO活性.     

Effect of preparation methods on the performance of CuFe-SSZ-13 catalysts for selective catalytic reduction of NOx with NH3

CuFe-SSZ-13 catalyst showed excellent performance in the selective catalytic reduction of NO_x with NH₃ (NH₃-SCR) for diesel engine exhaust purification. To investigate the effect of preparation methods on NH₃-SCR performance, Fe was loaded into one-pot synthesized Cu-SSZ-13 catalysts through solid-state ion-exchange (SSIE), homogeneous deposition precipitation (HDP) and liquid ion-exchange (IE), respectively. Three CuFe-SSZ-13 catalysts showed similar SO₂ resistance, which was better than that of Cu-SSZ-13. The improvement was attributed to the protection of Fe species. Hydrothermal stability of three CuFe-SSZ-13 catalysts was significantly different, which was attributed to the state of active species caused by different preparation methods. Compared with the other two catalysts, more active species existed inside the zeolite pores of CuFe-SSZ-13_SSIE. During hydrothermal aging, the aggregation of these active species in the pores caused the collapse of catalyst structure, ultimately leading to the deactivation of CuFe-SSZ-13_SSIE. In contrast, Fe species was dispersed better on the surface over CuFe-SSZ-13_IE, enhancing the hydrothermal stability of catalysts. Consequently, Fe loading effectively improved the resistance of SO₂ and H₂O over Cu-SSZ-13. For CuFe-SSZ-13, large amounts of active species located inside the zeolite pores are not beneficial for the hydrothermal stability.     

Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

Survival of children with congenital diaphragmatic hernia (CDH) is mainly dependent on the extent of lung hypoplasia and the presence of additional congenital anomalies or chromosomal aberrations. A chromosomal deletion 15q25-q26.2 in a fetus with prenatally diagnosed CDH and growth retardation is reported. Despite optimal pre- and neonatal management the baby died shortly after birth. There is increasing evidence that the long arm of chromosome 15, and especially the region 15q24 to 15q26, plays a crucial role in the development of the diaphragm. The finding of a deletion within 15q24-26 in a fetus with CDH has to be considered a predictor of poor prognosis. It is of utmost interest for proper parental counselling to search in fetuses with CDH for subtle chromosomal lesions paying special attention to chromosome 15q. Copyright © 2001 John Wiley & Sons, Ltd.